Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_007294.4

p.Q139fs

c.415_416fs

Surrounding Variants

10 papers

NM_007294.4

p.Q139*

c.415C>T

1 paper

NM_007294.4

p.Q139E

c.415C>G

1 paper

NM_007294.4

p.Q139_S140insT

c.415_419ins3

2 papers

NM_007294.4

p.Q139K

c.415C>A

2 papers

NM_007294.4

p.Q139L

c.416A>T

1 paper

NM_007294.4

p.L138L

c.414A>T

4 papers

NM_007294.4

p.Q139R

c.416A>G

4 papers

NM_007294.4

p.L138insFs

c.412_413dupCT

1 paper

NM_007294.4

p.L137_L138delFs

c.409_413del5

2 papers

NM_007294.4

p.L138R

c.413T>G

3 papers

NM_007294.4

p.L138P

c.413T>C

1 paper

NM_007294.4

p.L138Q

c.413T>A